Compositions and methods useful for the diagnosis and treatment of common variable immunodeficiency are disclosed.
Legal claims defining the scope of protection. Each claim is shown in both the original legal language and a plain English translation.
1. A solid support for detecting at least one common variable immunodeficiency (CVID)-associated copy number variation (CNV) in a sample comprising immobilized nucleic acid probes or primers of 15 or more nucleotides in length, wherein each of said probes or primers present on said solid support specifically hybridize to CVID specific nucleic acids in chromosomal regions consisting of chr11: 85365857-85381622, chr20: 57735790-57741780, chr22: 17396663-18417315, chr4: 10256682-10264316, and chr10: 46003146-46042543, chr2: 148396730-148433180, chr15: 35053039-35063531, chr7: 91789778-91801963, chr2: 163316298-163316595, chr7: 87180702-87191931, and, optionally, one or more of chr19: 9256584-9277749, chr4: 39190766-39201960, chr7: 18903915-18905725, chr5: 170531269-170536993, chr7: 34685030-34686172, and chr1: 170400944-170403742.
This invention relates to a solid support for detecting copy number variations (CNVs) associated with common variable immunodeficiency (CVID) in a sample. The solid support includes immobilized nucleic acid probes or primers, each at least 15 nucleotides in length, designed to specifically hybridize to CVID-specific nucleic acids in defined chromosomal regions. The target regions include specific coordinates on chromosomes 11, 20, 22, 4, 10, 2, 15, 7, and optionally on chromosomes 19, 4, 7, 5, 1, and 1. The probes or primers are immobilized on the solid support to enable detection of CNVs in these regions, which are linked to CVID. The invention provides a tool for genetic screening and diagnosis of CVID by analyzing these chromosomal regions for abnormal copy number changes. The solid support may be used in various diagnostic assays, such as microarray or sequencing-based methods, to identify CVID-associated genetic variations.
2. A kit comprising the solid support of claim 1 and reagents for detecting hybridization of nucleic acids to said solid support.
This invention relates to a kit for nucleic acid hybridization detection, addressing the need for efficient and reliable methods to analyze nucleic acid interactions. The kit includes a solid support designed to immobilize nucleic acids, enabling their hybridization with complementary sequences. The solid support is engineered to facilitate stable binding of nucleic acids while minimizing non-specific interactions, ensuring accurate detection. The kit also provides reagents specifically formulated to detect hybridization events on the solid support. These reagents may include labeled probes, buffers, and enzymes that enhance signal generation or amplification, allowing for sensitive and specific detection of hybridized nucleic acids. The combination of the solid support and detection reagents enables streamlined workflows for applications such as gene expression analysis, genetic screening, or pathogen detection. The invention improves upon existing methods by integrating the solid support and detection components into a single, optimized kit, reducing variability and improving reproducibility in nucleic acid hybridization assays.
Cooperative Patent Classification codes for this invention. Click any code to explore related patents in that topic.
August 18, 2015
December 31, 2019
Browse 5M+ US patents with plain-English claim translations and AI-generated analysis.